Cited by 757Mitochondrial Function and PathologyMetabolism and Genetic DisordersForensic and Genetic Research

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Human mitochondrial DNA: roles of inherited and somatic mutations

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Schon, Eric A., DiMauro, Salvatore, Hirano, Michio·2012·Nature Reviews Genetics

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Abstract

Mutations in the human mitochondrial genome are known to cause an array of diverse disorders, most of which are maternally inherited, and all of which are associated with defects in oxidative energy metabolism. It is now emerging that somatic mutations in mitochondrial DNA (mtDNA) are also linked to other complex traits, including neurodegenerative diseases, ageing and cancer. Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis.

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Authors: Schon, E. A., DiMauro, S., & Hirano, M.
Affiliations: Columbia University Irving Medical Center (US)
Corresponding author: Schon, Eric A.
ORCID: Hirano, Michio
Venue: Nature Reviews Genetics
Publisher: Springer Science and Business Media LLC
Published: 2012-11-16
Volume: 13
Issue: 12
Pages: 878-890
ISSN: 1471-0056 (ISSN-L)
1471-0064
DOI: 10.1038/nrg3275
PMC: PMC3959762
OpenAlex: W1968408636
Cited by: 757
References: 150
Citations by year: 2026: 34 · 2025: 34 · 2024: 53 · 2023: 39 · 2022: 54 · 2021: 65 · 2020: 70 · 2019: 53 · 2018: 72 · 2017: 43 · 2016: 72 · 2015: 60 · 2014: 62 · 2013: 46
FWCI: 4.90
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Genetics (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: U.S. Department of Defense
Alzheimer's Drug Discovery Foundation
National Institutes of Health
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD32062, P01HD032062)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Keywords: mitochondrial DNA mutations, primary mitochondrial disease, somatic mtDNA mutations, oxidative phosphorylation defects, neurodegeneration, aging, cancer, complex traits, mitochondrial genome
MeSH terms: Aging, DNA, Mitochondrial, Electron Transport, Humans, Models, Biological, Models, Genetic, Mutation, Neoplasms, Oxidative Phosphorylation, Germ-Line Mutation, Heredodegenerative Disorders, Nervous System, Mitochondrial Diseases, Genome, Mitochondrial

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Human mitochondrial DNA: roles of inherited and somatic mutations

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